Tag: genetic counselor

This recent article published in Naturediscusses several real-life scenarios in which patients were mistakenly diagnosed with serious genetic cardiac conditions, including HCM, as a result of erroneous direct-to-consumer genetic testing.

These misdiagnoses directly resulted from misinterpretation of raw data by third party interpretation services that were working with raw data provided to them by direct-to-consumer genetic testing companies.

After medical testing, none of the patients discussed in the highlighted cases were ultimately found to have disease or be in need of medical intervention, though all underwent unnecessary medical testing and/or invasive procedures. Some even made radical lifestyle changes as a result of the erroneous genetic information.

This article demonstrates the unreliability of direct-to-consumer genetic testing, which has the potential to cause great upheaval to both patients and the medical system.

As always, patients seeking genetic testing should do their homework. Genetic testing for heart conditions is best when done by the experts – cardiac genetic counselors!

The article focuses on the motivation for and the impact of HCM genetic testing on family members. The 32 participants in the study all encouraged family members to undergo genetic testing with the hope that the knowledge gained would benefit family members down the line. However, the study found that the psychological impact of a positive result, in the absence of overt disease, was highly variable. Some gene positive individuals perceived that they had an absolute risk of developing HCM, with substantial detriment to their lifestyle choices, while others were not at all affected by the result and made no lifestyle changes.

What is HCM?

HCM is a very common condition, and may affect as many as 1 in 200 people. However, many do not know that they have the disease and are often undiagnosed or have instead been misdiagnosed with other conditions.

The scariest thing about HCM, and the most sensational, is that HCM can sometimes cause sudden death, and this can occur without obvious symptoms beforehand.

Luckily, recent research has shown that with the right treatment, and thanks to modern medical advances, the scariest and worst scenario is not likely, and that most HCM patients will live normal life spans with few disabilities.